An evaluation of practices and policies used in genetics clinics across the United States to manage referrals for Ehlers-Danlos and hypermobility syndromes
Purpose: Hypermobile Ehlers-Danlos syndrome (hEDS) and joint hypermobility syndrome (JHS), among other conditions, comprise a collection of heritable disorders of connective tissue. There are recognized challenges in diagnosing JHS/hEDS. Despite a lack of identifiable molecular etiology for these co...
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Elsevier
2025-01-01
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| Series: | Genetics in Medicine Open |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774424011063 |
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| author | Lauren Boucher Berkley Nestler Daniel Groepper John Quillin David Deyle Colin M.E. Halverson |
| author_facet | Lauren Boucher Berkley Nestler Daniel Groepper John Quillin David Deyle Colin M.E. Halverson |
| author_sort | Lauren Boucher |
| collection | DOAJ |
| description | Purpose: Hypermobile Ehlers-Danlos syndrome (hEDS) and joint hypermobility syndrome (JHS), among other conditions, comprise a collection of heritable disorders of connective tissue. There are recognized challenges in diagnosing JHS/hEDS. Despite a lack of identifiable molecular etiology for these conditions, referrals to medical geneticists for evaluation are commonplace, and they continue to rise. Because of an absence of nationally recognized referral guidelines for JHS/hEDS, health care institutions are left to develop their own policies. The purpose of our study was to characterize these ad hoc policies systematically and at a nationwide level. Methods: We conducted a mixed-methods study of 71 board-eligible or board-certified genetic counselors, including 15 qualitative interviews. Results: Cross-case analysis revealed multiple motivations for creating these policies, methods to more effectively manage referrals for hypermobility and concern for EDS, and participants’ evaluations of the successes and shortcomings of these policies at their institutions. We found diverse and unstandardized policies that were meant to address numerous perceived challenges. This lack of standardization is a concern because it may result in inconsistent access to care for patients with JHS/hEDS and create barriers to diagnosis and treatment. Conclusion: Our findings demonstrate that policies vary widely, and genetic counselors are concerned about the potential impact of this variability on the quality of care for patients with JHS/hEDS. |
| format | Article |
| id | doaj-art-4a9ae202d3004c5fa17b441fad41228d |
| institution | Kabale University |
| issn | 2949-7744 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj-art-4a9ae202d3004c5fa17b441fad41228d2025-02-08T05:01:49ZengElsevierGenetics in Medicine Open2949-77442025-01-013101960An evaluation of practices and policies used in genetics clinics across the United States to manage referrals for Ehlers-Danlos and hypermobility syndromesLauren Boucher0Berkley Nestler1Daniel Groepper2John Quillin3David Deyle4Colin M.E. Halverson5Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MNDepartment of Pediatrics, Virginia Commonwealth University, Richmond, VADepartment of Pediatrics, Southern Illinois University School of Medicine, Springfield, ILDepartment of Pediatrics, Virginia Commonwealth University, Richmond, VADepartment of Clinical Genomics, Mayo Clinic, Rochester, MNCenter for Bioethics, Indiana University School of Medicine, Indianapolis, IN; Department of Medicine, Indiana University School of Medicine, Indianapolis, IN; Department of Anthropology, Indiana University, Indianapolis, IN; Regenstrief Institute, Indianapolis, IN; Charles Warren Fairbanks Center for Medical Ethics, Indianapolis, IN; Correspondence and requests for materials should be addressed to Colin M.E. Halverson, Indiana University School of Medicine, 410 W 10th St, Indianapolis, IN 46202.Purpose: Hypermobile Ehlers-Danlos syndrome (hEDS) and joint hypermobility syndrome (JHS), among other conditions, comprise a collection of heritable disorders of connective tissue. There are recognized challenges in diagnosing JHS/hEDS. Despite a lack of identifiable molecular etiology for these conditions, referrals to medical geneticists for evaluation are commonplace, and they continue to rise. Because of an absence of nationally recognized referral guidelines for JHS/hEDS, health care institutions are left to develop their own policies. The purpose of our study was to characterize these ad hoc policies systematically and at a nationwide level. Methods: We conducted a mixed-methods study of 71 board-eligible or board-certified genetic counselors, including 15 qualitative interviews. Results: Cross-case analysis revealed multiple motivations for creating these policies, methods to more effectively manage referrals for hypermobility and concern for EDS, and participants’ evaluations of the successes and shortcomings of these policies at their institutions. We found diverse and unstandardized policies that were meant to address numerous perceived challenges. This lack of standardization is a concern because it may result in inconsistent access to care for patients with JHS/hEDS and create barriers to diagnosis and treatment. Conclusion: Our findings demonstrate that policies vary widely, and genetic counselors are concerned about the potential impact of this variability on the quality of care for patients with JHS/hEDS.http://www.sciencedirect.com/science/article/pii/S2949774424011063Ehlers-Danlos syndrome (EDS)Genetic counselingHealthcare policyJoint Hypermobility syndrome (JHS)Mixed-methods |
| spellingShingle | Lauren Boucher Berkley Nestler Daniel Groepper John Quillin David Deyle Colin M.E. Halverson An evaluation of practices and policies used in genetics clinics across the United States to manage referrals for Ehlers-Danlos and hypermobility syndromes Genetics in Medicine Open Ehlers-Danlos syndrome (EDS) Genetic counseling Healthcare policy Joint Hypermobility syndrome (JHS) Mixed-methods |
| title | An evaluation of practices and policies used in genetics clinics across the United States to manage referrals for Ehlers-Danlos and hypermobility syndromes |
| title_full | An evaluation of practices and policies used in genetics clinics across the United States to manage referrals for Ehlers-Danlos and hypermobility syndromes |
| title_fullStr | An evaluation of practices and policies used in genetics clinics across the United States to manage referrals for Ehlers-Danlos and hypermobility syndromes |
| title_full_unstemmed | An evaluation of practices and policies used in genetics clinics across the United States to manage referrals for Ehlers-Danlos and hypermobility syndromes |
| title_short | An evaluation of practices and policies used in genetics clinics across the United States to manage referrals for Ehlers-Danlos and hypermobility syndromes |
| title_sort | evaluation of practices and policies used in genetics clinics across the united states to manage referrals for ehlers danlos and hypermobility syndromes |
| topic | Ehlers-Danlos syndrome (EDS) Genetic counseling Healthcare policy Joint Hypermobility syndrome (JHS) Mixed-methods |
| url | http://www.sciencedirect.com/science/article/pii/S2949774424011063 |
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